A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303589



Internal ID15150537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105908501..105908502hg38UCSC Ensembl
Innerchr8:105908484..105908519hg38UCSC Ensembl
Outerchr8:105908483..105908520hg38UCSC Ensembl
chr8:106920729..106920730hg19UCSC Ensembl
Innerchr8:106920712..106920747hg19UCSC Ensembl
Outerchr8:106920711..106920748hg19UCSC Ensembl
chr8:106989905..106989906hg18UCSC Ensembl
Innerchr8:106989923..106989888hg18UCSC Ensembl
Outerchr8:106989887..106989924hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7835066, essv7818366, essv7784341, essv7781261, essv7789808, essv7805216, essv7828235, essv7799052, essv7786295, essv7788645, essv7771609, essv7792272, essv7832774, essv7832186, essv7812394, essv7814279, essv7812568, essv7835641, essv7791880, essv7793162, essv7779725, essv7785336, essv7826012, essv7836410, essv7809650, essv7783037, essv7805755, essv7825788, essv7818293
SamplesNA18861, NA18508, NA18507, NA18510, NA18519, NA18489, NA18916, NA19138, NA18498, NA12761, NA19238, NA12003, NA12872, NA18516, NA18907, NA18573, NA18499, NA18912, NA19099, NA19257, NA18858, NA12043, NA18909, NA18517, NA07051, NA06986, NA18501, NA19093, NA18505
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303589
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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